viral-ngs: command line tools and wrappers for processing raw viral genomic data
MyVariant.info: A BioThings API for human variant annotations
Generic human DNA variant annotation pipeline
Genomic VCF to tab-separated values
CADD-SV – a framework to score the effect of structural variants
PyGeneBe: A Python client seamlessly integrating with the GeneBe platform, offering efficient annotation of genetic variants through its API, while supporting pandas, VCF file formats, and HGVS parsing
Clinical machine-learning based interpreter of germline mutations.
MetaDome is aimed at professionals in the (bio-)medical field of human genetics who wish to visualize the position of their variant of interest in the context of general population-based genetic variation, and provides detailed information on pathogenic variants found across homologous protein domain positions, for GRCh37 and GRCh38.
A Python GUI VCF viewer for SNP, indels, and TE.
A Snakemake workflow for variant calling using GATK4 best practices
Multi-source germline variant annotation pipeline
A relational database stores per sample based sequencing data.
An empirical variant annotation and data evaluation pipeline.
Generate an interactive HTML-based report from M.tb SnpEff annotated VCF(s)
Repository for miscellaneous bioinformatics scripts that may be useful to others.
DiVA (DNA Variant Analysis) is a pipeline for Next-Generation Sequencing Exome data anlysis
neural networks to score PubMed search results for similarity to evidence abstracts from ClinVar or CIViC
Python wrapper and web-server for Ensembl VEP
WES Analysis scripts for "Immune determinants of response to neoadjuvant chemo-radiation in esophageal adenocarcinoma" publication
Customized vcf_melt script from pyvcf. Handles snpEff-annotated vcf files
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